The Fanconi anemia complementation group (FANC) currently includes FANCA FANCB FANCC FANCD1 (also called BRCA2) FANCD2 FANCE FANCF FANCG FANCI FANCJ (also called BRIP1) FANCL FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability hypersensitivity to DNA crosslinking agents increased chromosomal breakage and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq Jul 2008]

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